Incidental Mutation 'R6067:Zfp1'
ID 512222
Institutional Source Beutler Lab
Gene Symbol Zfp1
Ensembl Gene ENSMUSG00000055835
Gene Name zinc finger protein 1
Synonyms mkr-1, Fnp-1, Zfp-1
MMRRC Submission 044231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R6067 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 112370033-112397643 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112396975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 299 (F299S)
Ref Sequence ENSEMBL: ENSMUSP00000148511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077791] [ENSMUST00000211926] [ENSMUST00000212072] [ENSMUST00000212206]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000077791
AA Change: F332S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076964
Gene: ENSMUSG00000055835
AA Change: F332S

DomainStartEndE-ValueType
KRAB 8 71 8.91e-21 SMART
ZnF_C2H2 183 205 5.14e-3 SMART
ZnF_C2H2 211 233 9.22e-5 SMART
ZnF_C2H2 239 261 1.72e-4 SMART
ZnF_C2H2 267 289 5.59e-4 SMART
ZnF_C2H2 295 317 3.16e-3 SMART
ZnF_C2H2 323 345 5.21e-4 SMART
ZnF_C2H2 351 373 2.65e-5 SMART
ZnF_C2H2 379 401 8.47e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000211926
AA Change: F318S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000212072
AA Change: F299S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212206
Meta Mutation Damage Score 0.8015 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Fam90a1b T C X: 93,400,191 (GRCm39) N213S probably benign Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Rad23b C T 4: 55,370,400 (GRCm39) A142V probably damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Other mutations in Zfp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00732:Zfp1 APN 8 112,397,050 (GRCm39) missense probably damaging 1.00
R0402:Zfp1 UTSW 8 112,396,875 (GRCm39) missense probably damaging 0.98
R4381:Zfp1 UTSW 8 112,397,083 (GRCm39) missense probably damaging 1.00
R4478:Zfp1 UTSW 8 112,397,175 (GRCm39) missense probably damaging 1.00
R4894:Zfp1 UTSW 8 112,396,355 (GRCm39) nonsense probably null
R6078:Zfp1 UTSW 8 112,396,975 (GRCm39) missense probably damaging 1.00
R6723:Zfp1 UTSW 8 112,396,971 (GRCm39) missense probably damaging 1.00
R7711:Zfp1 UTSW 8 112,396,794 (GRCm39) missense not run
R9767:Zfp1 UTSW 8 112,396,203 (GRCm39) missense probably benign 0.00
U15987:Zfp1 UTSW 8 112,396,975 (GRCm39) missense probably damaging 1.00
X0026:Zfp1 UTSW 8 112,396,744 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATTCGCTCAGAAGTTTGAACTC -3'
(R):5'- TGAGCCTCAGGACTATGCCATG -3'

Sequencing Primer
(F):5'- GCTCAGAAGTTTGAACTCACCAC -3'
(R):5'- TCAGGACTATGCCATGTGAAC -3'
Posted On 2018-04-12